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NM_004655.4(AXIN2):c.1994del (p.Gly665fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 15, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002415401.2

Allele description [Variation Report for NM_004655.4(AXIN2):c.1994del (p.Gly665fs)]

NM_004655.4(AXIN2):c.1994del (p.Gly665fs)

Gene:
AXIN2:axin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q24.1
Genomic location:
Preferred name:
NM_004655.4(AXIN2):c.1994del (p.Gly665fs)
Other names:
L688*
HGVS:
  • NC_000017.10:g.63532585del
  • NC_000017.11:g.65536473del
  • NG_012142.1:g.30156del
  • NM_001363813.1:c.1799del
  • NM_004655.4:c.1994delMANE SELECT
  • NP_001350742.1:p.Gly600fs
  • NP_004646.3:p.Gly665fs
  • LRG_296t1:c.1994del
  • LRG_296:g.30156del
  • LRG_296p1:p.Gly665Alafs
  • NC_000017.10:g.63532585del
  • NC_000017.10:g.63532585delC
  • NC_000017.10:g.63532591del
  • NM_004655.3:c.1994del
  • NM_004655.3:c.1994delG
Protein change:
G600fs; LEU688TER
Links:
OMIM: 604025.0002; dbSNP: rs267606674
NCBI 1000 Genomes Browser:
rs267606674
Molecular consequence:
  • NM_001363813.1:c.1799del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004655.4:c.1994del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002720025Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 15, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002720025.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1994delG pathogenic mutation, located in coding exon 7 of the AXIN2 gene, results from a deletion of one nucleotide at nucleotide position 1994, causing a translational frameshift with a predicted alternate stop codon (p.G665Afs*24). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024